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CC BY 4.0 · Glob Med Genet 2022; 09(03): 237-241
DOI: 10.1055/s-0042-1751303
Review Article

A Narrative Review on Fanconi Anemia: Genetic and Diagnostic Considerations

Preksha Sharma
1   Department of Anatomy, SMS Medical College and Attached Hospitals, Jaipur, Rajasthan, India
,
Neha Sharma
2   Department of Pharmacology, SMS Medical College and Attached Hospitals, Jaipur, Rajasthan, India
,
Dhruva Sharma
3   Department of Cardiothoracic and Vascular Surgery, SMS Medical College and Attached Hospitals, Jaipur, Rajasthan, India
› Author Affiliations Funding None.
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Abstract

Fanconi anemia (FA) is an autosomal recessive disorder, both genetically and phenotypically. It is characterized by chromosomal instability, progressive bone marrow failure, susceptibility to cancer, and various other congenital abnormalities. It involves all the three cell lines of blood. So far, biallelic mutations in 21 genes and one x-linked gene have been detected and found to be associated with FA phenotype. Signs and symptoms start setting in by the age of 4 to 7 years, mainly hematological symptoms. This includes pancytopenia, that is, a reduction in the number of white blood cells (WBCs), red blood cells (RBCs), and platelets. Therefore, the main criteria for diagnosis of FA include skeletal malformations, pancytopenia, hyperpigmentation, short stature, urogenital abnormalities, central nervous system, auditory, renal, ocular, and familial occurrence. Patients showing signs and symptoms of FA should be thoroughly evaluated. A complete blood count will reveal a reduced number of RBC, WBC, and platelets, that is, pancytopenia. Chromosomal breakage study/stress cytogenetics should be done in patients with severe pancytopenia. Momentousness timely diagnosis of current disease, prenatal diagnosis, and genetic counseling should be emphasized.

Keywords

Fanconi anemia - pancytopenia - acute myeloid leukemia - stress cytogenetics


Publication History

Received: 06 May 2022

Accepted: 19 May 2022

Article published online:
05 September 2022

© 2022. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

Georg Thieme Verlag KG
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